HGVS | Genome Assembly |
---|---|
NC_000022.11:g.43946194A>T , CM000684.2:g.43946194A>T | GRCh38 |
NC_000022.10:g.44342074A>T , CM000684.1:g.44342074A>T | GRCh37 |
NC_000022.9:g.42673407A>T | NCBI36 |
NG_008631.1:g.27456A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216180.8:c.1258A>T MANE Select | ENSP00000216180.3:p.Thr420Ser | |
ENST00000216180.7:c.1258A>T | ENSP00000216180.3:p.Thr420Ser | |
ENST00000406117.6:c.*849+1399A>T | ENSP00000384668.2:n.*849+1399A>T | |
ENST00000423180.2:c.1246A>T | ENSP00000397987.2:p.Thr416Ser | |
NM_025225.2:c.1258A>T | NP_079501.2:p.Thr420Ser | |
NM_025225.3:c.1258A>T MANE Select | NP_079501.2:p.Thr420Ser |